Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome

Noonan Syndrome (NS) is associated with an increased risk of low-grade central nervous system tumours in children but only very rarely associated with high-grade gliomas. Here we describe the first reported case of a spinal high-grade astrocytoma with piloid features (HGAP) in a child with NS. This...

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Bibliographic Details
Published in:NPJ precision oncology 2024-10, Vol.8 (1), p.236-7, Article 236
Main Authors: Staunton, Jordan, Ajuyah, Pamela, Harris, Angela, Mayoh, Chelsea, Wong, Marie, Rumford, Megan, Sullivan, Patricia J., Ekert, Paul G., Fuentes-Bolanos, Noemi, Cowley, Mark J., Lau, Loretta M. S., Ziegler, David S., Barahona, Paulette, Manoharan, Neevika
Format: Article
Language:English
Subjects:
692/4028/67/1922
692/4028/67/69
Blood vessels
Brain cancer
Brain research
Cancer Research
Case Report
Case reports
DNA methylation
Gene Therapy
Genomes
Glioma
Human Genetics
Internal Medicine
Medical research
Medicine
Medicine & Public Health
Mutation
Nervous system
Oncology
Ostomy
Paralysis
Pathology
Pediatrics
Spinal cord
Tumors
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Summary:Noonan Syndrome (NS) is associated with an increased risk of low-grade central nervous system tumours in children but only very rarely associated with high-grade gliomas. Here we describe the first reported case of a spinal high-grade astrocytoma with piloid features (HGAP) in a child with NS. This case was a diagnostic and treatment dilemma, prior to whole-genome germline and tumour sequencing, tumour transcriptome sequencing and DNA methylation analysis. The methylation profile matched strongly with HGAP and sequencing identified somatic FGFR1 and NF1 variants and a PTPN11 germline pathogenic variant. Therapeutic targets were identified but also alterations novel to HGAP such as differential expression of VEGFA and PD-L1 . The germline PTPN11 finding has not been previously described in individuals with HGAP. This case underscores the power of precision medicine from a diagnostic, therapeutic and clinical management perspective, and describes an association between HGAP and NS which has not previously been reported.
ISSN:2397-768X
2397-768X
DOI:10.1038/s41698-024-00734-3